Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson’s disease in a Taiwanese population
- Resource Type
- Authors
- Ruey-Meei Wu; Chin-Hsien Lin; Chang-Han Ho; Hang-Yi Lin; Szu-Ju Chen
- Source
- Neurobiology of Aging. 100:118.e15-118.e16
- Subject
- Male
0301 basic medicine
Proband
Aging
Pediatrics
medicine.medical_specialty
Parkinson's disease
Population
Taiwan
Disease
Gene mutation
medicine.disease_cause
Cohort Studies
Mitochondrial Proteins
03 medical and health sciences
0302 clinical medicine
Asian People
Parkinsonian Disorders
Intellectual disability
medicine
Humans
education
Aged
Mutation
education.field_of_study
business.industry
General Neuroscience
Age Factors
Membrane Proteins
Parkinson Disease
Exons
Middle Aged
medicine.disease
Pedigree
030104 developmental biology
Female
Neurology (clinical)
Geriatrics and Gerontology
Age of onset
business
030217 neurology & neurosurgery
Developmental Biology
- Language
- ISSN
- 0197-4580
Mutations in the peptidyl-tRNA hydrolase domain containing 1 (PTRHD1) gene have been recently identified in consanguineous Iranian and African families with juvenile parkinsonism and intellectual disability. However, the pathogenicity of PTRHD1 mutations in the disease and their role in young-onset Parkinson's disease (PD) remains unclear. We aimed to investigate PTRHD1 mutations in a Taiwanese cohort with young-onset and familial PD. We enrolled 464 participants, including 178 probands from PD pedigrees without known PD-causative gene mutations and 286 patients with young-onset PD (age of onset50 years). All exons and exon-intron boundary junctions of PTRHD1 were analyzed by Sanger sequencing. We did not find any pathogenic coding variants or previously reported mutations, suggesting that PTRHD1 mutations are rare in young-onset and familial PD in our population.